Clinical-instrumental definition of the phenotypic spectrum, response to treatment and natural history in Pearson and Kearns-Sayre syndrome - PS_KSS

IRCCS, OSPEDALE PEDIATRICO BAMBINO GESÙ DI ROMA0 个研究点目标入组 27 人开始时间: 2021年5月24日最近更新: 2021年8月17日

适应症

试验速览

暂无简介。

•Diagnosis of PS/KSS syndromes with confirmed genetic mutations associated PS/KSS syndromes. Diagnosis will be performed on review of muscle/skin biopsies, presence of mtDNa deletion on mtDNA samples from peripheral blood lymphocytes, urinary tract cells in urine, or muscle (Southern blot, Long PCR, MLPA), quantification of mtDNA deletions by Quantitative PCR. If genetic confirmation and quantification of mtDNA deletion is not available, it will performed at screening
•Newcastle Pediatric Mitochondrial Disease Scale score of =15 and = 60 on sections 1-3
•Evidence of disease progression within 12 months preceeding the screening either by NPMDS score or documented evidence of neurologic deterioration
•Availability of pre-enrollment brain MRI that confirms the characteristic basal ganglia damage or leukoencephalopathy of PS/KSS syndromes performed within 6 months prior to screening (if brain MRI/MRS is not available, it will performed at screening)
•Male or female age 1 to 25 years
•Patient or patient’s guardian able to consent and comply with protocol requirements
•Are the trial subjects under 18? yes
•Number of subjects for this age range:
•F.1.2 Adults (18-64 years) yes
•F.1.2.1 Number of subjects for this age range 9
•F.1.3 Elderly (>=65 years) no
•F.1.3.1 Number of subjects for this age range

•Allergy to folinic acid
•Clinical history of bleeding or abnormal baseline PT, PTT (or aPTT) or INR
•Pernicious Anemia,
•Hereditary fructose intolerance, glucose / galactose malabsorption syndrome or sucrase-isomaltase deficiency,
•Not-mitochondrial Diabetes
•Concomitant use of methotrexate
•Clinically significant disease, such as, but not limited to, hepatitis C virus (HCV) / human Immunodeficiency virus (HIV) / hepatitis B virus (HBV) / Cancer, that precludes study participation
•Diagnosis of any other concurrent inborn error of metabolism
•Previous tracheostomy
•Ventilator dependent or use of noninvasive ventilatory support within one month of enrollment
•Hepatic insufficiency with ALT, AST, Alkaline phosphatase, Total bilirubin grater than two times upper limit of normal
•Renal insufficiency requiring dialysis
•End stage cardiac failure
•Use of anticoagulant medications
•Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
•Pregnancy and breastfeeding women.

发起方

IRCCS, OSPEDALE PEDIATRICO BAMBINO GESÙ DI ROMA